Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 15 | 89312913 | frameshift variant | A/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 15 | 89316797 | frameshift variant | -/C | delins |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 15 | 89317447 | missense variant | T/C | snv |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 15 | 89317496 | stop gained | G/A | snv |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 15 | 89317457 | missense variant | A/G;T | snv | 4.0E-06 |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 15 | 89317522 | splice acceptor variant | TAGGCAAACATGCACCTGA/- | del | 7.0E-06 |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 15 | 89306149 | frameshift variant | G/- | delins | 5.2E-05 | 6.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 15 | 89317493 | missense variant | A/G | snv | 2.0E-05 | 2.8E-05 |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 15 | 89307644 | frameshift variant | GT/- | delins | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 15 | 89317525 | frameshift variant | -/AACA | delins | 4.0E-06 |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 15 | 89317379 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 15 | 89317510 | missense variant | A/C | snv | 4.0E-06 |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 15 | 89315390 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 15 | 89263422 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 |